Canonical Allele Identifier: CA2580094271

Linked Data

ClinVar Variation Id: 2027497
ClinVar RCV Id: RCV002889485

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.56848750_56848751insT , CM000679.2:g.56848750_56848751insT GRCh38
NC_000017.10:g.54926111_54926112insT , CM000679.1:g.54926111_54926112insT GRCh37
NC_000017.9:g.52281110_52281111insT NCBI36
NG_033888.1:g.19652_19653insT

Transcript Alleles

HGVS Amino-acid change
ENST00000284061.8:c.943_944insT (DGKE) MANE Select ENSP00000284061.3:p.Asp315ValfsTer?
ENST00000648772.1:c.*313+3192_*313+3193insA (TRIM25) ENSP00000498158.1:n.*313+3192_*313+3193insA
ENST00000284061.7:c.943_944insT (DGKE) ENSP00000284061.3:p.Asp315ValfsTer?
ENST00000572944.1:c.773_774insT (DGKE)
NM_003647.2:c.943_944insT (DGKE) NP_003638.1:p.Asp315ValfsTer?
XM_011525394.1:c.997_998insT (DGKE) XP_011523696.1:p.Asp333ValfsTer?
XM_011525395.1:c.997_998insT (DGKE) XP_011523697.1:p.Asp333ValfsTer?
XM_011525396.1:c.997_998insT (DGKE) XP_011523698.1:p.Asp333ValfsTer?
XM_011525397.1:c.997_998insT (DGKE) XP_011523699.1:p.Asp333ValfsTer?
XM_011525398.1:c.487_488insT (DGKE) XP_011523700.1:p.Asp163ValfsTer?
XR_934581.1:n.1096_1097insT (DGKE)
XM_011525394.3:c.997_998insT (DGKE) XP_011523696.1:p.Asp333ValfsTer?
XM_011525395.2:c.997_998insT (DGKE) XP_011523697.1:p.Asp333ValfsTer?
XM_011525396.2:c.997_998insT (DGKE) XP_011523698.1:p.Asp333ValfsTer?
XM_017025243.2:c.1315_1316insT (DGKE) XP_016880732.1:p.Asp439ValfsTer?
XM_017025244.2:c.997_998insT (DGKE) XP_016880733.1:p.Asp333ValfsTer?
XR_001752670.2:n.1501_1502insT (DGKE)
XR_001752671.1:n.1108_1109insT (DGKE)
XR_001752672.1:n.1109_1110insT (DGKE)
XR_002958079.1:n.1107_1108insT (DGKE)
NM_003647.3:c.943_944insT (DGKE) MANE Select NP_003638.1:p.Asp315ValfsTer?